Congenital disorder of glycosylation, type iig

Preferred Label : Congenital disorder of glycosylation, type iig;

Symbol : CDG2G;

CISMeF acronym : CDG IIG; CDG2G;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIIg; Cdgii/cog1 cerebrocostomandibular-like syndrome; Cdg iig;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the component of oligomeric Golgi complex I gene (COG1, 606973.0001);

Laboratory abnormalities : Abnormal glycosylation of serum transferrin, type 2 pattern;

Prefixed ID : #611209;

Details

Origin ID

611209;

UMLS CUI

C2931011;

Currated CISMeF NLP mapping
- COG1-CDG [ORDO Disease]
- Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type 2G [MeSH concept]
- congenital disorder of glycosylation type IIg [Disease (Nov.)]
- congenital disorder of glycosylation type IIg [DO Concept]
- congenital disorder of glycosylation, type 2G [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation type IIg [DO Concept]
Genes related to phenotype
- Component of oligomeric golgi complex 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Abnormal rib morphology [HPO term]
- Anemia [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Butterfly vertebrae [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Mild global developmental delay [HPO term]
- Osteopenia [HPO term]
- Pierre-Robin sequence [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive microcephaly [HPO term]
- Recurrent infections [HPO term]
- Renal insufficiency [HPO term]
- Rhizomelia [HPO term]
- Scoliosis [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
- Type II transferrin isoform profile [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vertebral segmentation defect [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- COG1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG1-CDG [ORDO Disease]
- Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type 2G [MeSH concept]
- congenital disorder of glycosylation type IIg [Disease (Nov.)]
- congenital disorder of glycosylation type IIg [DO Concept]
- congenital disorder of glycosylation, type 2G [MeSH Supplementary Concept]

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